UniProtKB/Swiss-Prot O60477: Variant p.Ala437Thr

BMP/retinoic acid-inducible neural-specific protein 1
Gene: BRINP1
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Variant information Variant position:

437 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Alanine (A) to Threonine (T) at position 437 (A437T, p.Ala437Thr). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Change from small size and hydrophobic (A) to medium size and polar (T) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Other resources:

Links to websites of interest for the variant.

Variant rs1043377 [ dbSNP | Ensembl ]

Sequence information Variant position:

437 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

761 The length of the canonical sequence.
Location on the sequence:

GSTTLCQRPIPCVIGGNNSC A MCSLANISLCGSCNKGYKLY The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         GSTTLCQRPIPCVIGGNNSCAMCSLANISLCGSCNKGYKLY

Mouse                         GSTTLCQRPIPCIIGGNNSCAMCSLANISLCGSCNKGYKLY

Rat                           GSTTLCQRPIPCIIGGNNSCAMCSLANISLCGSCNKGYKLY

Bovine                        GSTTLCQRPIPCIIGGNNSCAMCSLANISLCGSCNKGYKLY

Chicken                       GGTSLCQRPIPCIIGGNNSCAMCSLANISLCGSCNKGYKLY

Sequence annotation in neighborhood:

The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:

Type: the type of sequence feature.
Positions: endpoints of the sequence feature.
Description: contains additional information about the feature.

Type	Positions	Description
Chain	20 – 761	BMP/retinoic acid-inducible neural-specific protein 1
Glycosylation	433 – 433	N-linked (GlcNAc...) asparagine
Glycosylation	443 – 443	N-linked (GlcNAc...) asparagine
Alternative sequence	321 – 761	Missing. In isoform 2.

Literature citations
Structure and methylation-based silencing of a gene (DBCCR1) within a candidate bladder cancer tumor suppressor region at 9q32-q33.
Habuchi T.; Luscombe M.; Elder P.A.; Knowles M.A.;
Genomics 48:277-288(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT THR-437; TISSUE SPECIFICITY; Negative regulation of G(1)/S transition by the candidate bladder tumour suppressor gene DBCCR1.
Nishiyama H.; Gill J.H.; Pitt E.; Kennedy W.; Knowles M.A.;
Oncogene 20:2956-2964(2001)
Cited for: FUNCTION; SUBCELLULAR LOCATION; VARIANTS ARG-347; HIS-358 AND THR-437;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.